Human Phenotype Ontology 
Grandparent Node:
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Biliary tract abnormality (HP:0001080)help
Parent Node:
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Abnormal biliary tract morphology (HP:0012440)help
..Starting node
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Biliary tract obstruction (HP:0005230)help
Term ID: 5230
Name: Biliary tract obstruction
Synonym:
Definition: Obstruction affecting the biliary tree.
Comments:
Reference: HP:0005230
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal intrahepatic bile duct morphology (HP:0011040) help
..expandAbnormality of the ductus choledochus (HP:0100889) help
..expandBile duct proliferation (HP:0001408) help
..expandBiliary atresia (HP:0005912) help
..expandBiliary cirrhosis (HP:0002613) help
..expandBiliary epithelial hyperplasia (HP:0030986) help
..expandBiliary hyperplasia (HP:0006560) help
..expandBiliary tract neoplasm (HP:0100574) help
..expandCholangitis (HP:0030151) help
..expandPortosystemic collateral veins (HP:0025154) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005230HP:0005230Biliary tract obstruction0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040283 - Occasional111
HP:0005230HP:0005230Biliary tract obstruction0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional
HP:0005230HP:0005230Biliary tract obstruction0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional77


Genes (3) :ABCB4 GBA1 SCARB2

Diseases (2) :ORPHA:69663 ORPHA:77259
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.